RESUMEN
OBJECTIVE: The purpose of this investigation was to establish the prenatal diagnosis for identifying the risk for epidermolytic palmoplantar keratoderma(EPPK) of a fetus by sequence analysis of fetal genomic DNA from chorionic villi. METHODS: Chorionic villus sampling under transvaginal sonography at 12 weeks of gestation from a woman at risk for a child in a EPPK-affected family was perfomed. Polymerase chain reaction amplification of specific allele (PASA) assay was carried out for the detection of mutation(R162W in keratin 9 [K9] gene) previously identified in this family. Direct DNA sequencing analysis of K9 gene was accomplished to confirm the mutation. RESULTS: We had found the point mutation, R162W of K9 gene, in affected family members and confirmed by PASA assay. Affected family members were shown to have PCR products reactive with both the mutant and wildtype specific primers. Because we could not find any expected products after PASA assay with the primers la(+)/KSmt(-) of the fetal DNA, we predicted that the fetus did not inherited the mutant allele and that the fetus could be unaffected. After PASA assay, we analyzed DNA sequences of two family members to confirm the mutation. A C-to-T substitution at bp 545 was detected in the father, instead the fetus did not have any mutant band at that base pair. CONCLUSION: The PASA assay and direct DNA sequencing analysis of K9 gene through chorionic villi sampling and extraction of genomic DNA had validity to early prenatal diagnosis whether fetus was affected in EPPK or not.
Asunto(s)
Niño , Femenino , Humanos , Embarazo , Alelos , Emparejamiento Base , Secuencia de Bases , Vellosidades Coriónicas , Muestra de la Vellosidad Coriónica , ADN , Padre , Feto , Queratina-9 , Queratodermia Palmoplantar Epidermolítica , Mutación Puntual , Reacción en Cadena de la Polimerasa , Diagnóstico Prenatal , Análisis de Secuencia , Análisis de Secuencia de ADNRESUMEN
To investigate the properties and mechanism of PAF and TNF on the synthesis of prostaglandin E2 in human amnion, primary monolayer culture method was used for human amnion cell incubation. Amnion cells were incubated with various concentrations of PAF or TNF in Ca++ containing medium for various duration. Then PG E2 concentrations were measured by RIA and analyzed for the effect of PAF and TNF on PG E2 production according to their doses and incubation time. To test the role of Ca++ in E2 production, Ca++ free medium, Ca++ -channel antagonist and cyclo-oxygenase inhibitor were substituted or added in incubation medium. Following results were obtained. The synthesis of PG E2 was significantly enhanced by PAF of 10(-6) mol/L. The TNF also stimulated PG E2 synthesis at concentration of 10(-6)g/ml. The maximal level in PAF(10-6mol/L)-stimulated release of PG E2 was observed after 16 hours in incubation. The TNF(10(-6)g/ml)-induced PG E2 release was maximal after 24 hours of incubation. Combined application of PAF and TNF produced positive effect in PG E2 production. PAF or TNF stimulated-PG E2 production in Ca++ -free media was much lower than that of Ca++ -containing media. The PAF-stimulated PG E2 release was significantly inhibited by Ca++ -channel antagonist but TNF-stimulated PG E2 release was not effected by Ca++ -channel antagonist or cyclo-oxygenase inhibitor. It is strongly suggested us that both PAF and TNF enhance PG E2 release by amnion cell, although Ca++ -channel opening is essential only for PAF stimulation.
Asunto(s)
Humanos , Amnios , Plaquetas , Dinoprostona , Factor de Activación Plaquetaria , Prostaglandina-Endoperóxido Sintasas , Factor de Necrosis Tumoral alfaRESUMEN
No abstract available.
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Femenino , Humanos , Estradiol , Interleucina-1 , Mujeres Embarazadas , ProgesteronaRESUMEN
No abstract available.
Asunto(s)
Femenino , Embarazo , Sangre Fetal , Gases , Dolor de Parto , Valores de Referencia , Cordón UmbilicalRESUMEN
A large proportion of patients with systemic lupus erythematosus (SLE) are women of reproductive age. Their fetal outcome is undoubtedly less favourable than in healthy women. Although there is no evidence of an increase in congenital anomalies, increased frequencies of miscarriage, stillbirth, growth retardation, and preterm delivery are recognized. It mainly depends on the compromise of uteroplacental circulation such as renal disease, hypertension and thrombopoietic action of antiphos-pholipid antibody. Besides a small proportion of the newborn infants get a neonatal lupus sydrome, the most serious component being congenital heart block. This complication occurs almost exclusively in the offspring of women with anti-Ro/SSA antibodies. In order to find out the effect on fetus and newborn infants born to SLE mother, we reviewed clinical records of 11 infants born to 9 mothers with confirmed or suspected SLE at Seoul National University Hospital between June 1981 and May 1991. The results obtained were as follows: 1) Seven mothers among 9 were confirmed as SLE and 2 were suspected. 2) There were 6 spontaneous abortions (20.0%) and 5 stillbirths (16.7%) in 5 mothers among thirty pregnancies of 9 mothers. 3) Among 11 newborns, 4 (36.4%) were premature and 2 (18.2%) were small for gestational age. 4) Six mothers had proteinuria, over 4+, in Albustix. Four of these, including 3 preeclampsia mothers, delivered preterm babies. Two of premature babies were born through Cesarean section due to fetal distress and expired of hyaline membrane disease and its complications. The other 2 had thrombocytopenia and leukocytopenia at birth. One of these had intracranial hemorrhage at birth and seizure. 5) There were 2 mothers who had positive anticardiolipin antibody with SLE or without SLE. One with SLE was continuing positivity of the antibody during pregnancy and delivered premature baby who expired of HMD and PDA. The other who had seroconversion to negativity during the first trimester developed intermittently sinus bradycardia without apnea for 3 days. 6) Two of 11 newborns had only talipes equinovarus. 7) One mother who had anti-Ro/SSA antibody delivered monozygotic twin. The first baby was neonatal lupus erythematosus with complete heart block and skin pigmentation. All of them were suspected to right aortic arch and Kommerell's diverticulum on echocardiogram. As the above results, SLE mothers can cause serious effect on fetus and newborn when accompanied with active renal impairment, hypertension and positive antiphospholipid antibody. So we should treat mother with SLE even during pregnancy and it may give better outcome to mother and fetus. It will be useful for diagnosis and treatment of neonatal lupus erythematosus that the prenatal test for anti-Ro/SSA antibody, fetal monitoring, fetal echocardiogram and postnatal close observation for skin are taken.
Asunto(s)
Femenino , Humanos , Lactante , Recién Nacido , Embarazo , Aborto Espontáneo , Anticuerpos , Anticuerpos Anticardiolipina , Anticuerpos Antifosfolípidos , Aorta Torácica , Apnea , Bradicardia , Cesárea , Pie Equinovaro , Diagnóstico , Divertículo , Sufrimiento Fetal , Monitoreo Fetal , Feto , Edad Gestacional , Bloqueo Cardíaco , Enfermedad de la Membrana Hialina , Hipertensión , Hemorragias Intracraneales , Leucopenia , Lupus Eritematoso Sistémico , Madres , Parto , Circulación Placentaria , Preeclampsia , Primer Trimestre del Embarazo , Proteinuria , Convulsiones , Seúl , Piel , Pigmentación de la Piel , Mortinato , Trombocitopenia , Gemelos MonocigóticosRESUMEN
No abstract available.
Asunto(s)
Femenino , Humanos , Hormona Liberadora de Gonadotropina , Inmunohistoquímica , Hibridación in Situ , Ovario , ARN MensajeroRESUMEN
No abstract available.